Barnes K C, Neely J D, Duffy D L, Freidhoff L R, Breazeale D R, Schou C, Naidu R P, Levett P N, Renault B, Kucherlapati R, Iozzino S, Ehrlich E, Beaty T H, Marsh D G
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Genomics. 1996 Oct 1;37(1):41-50. doi: 10.1006/geno.1996.0518.
To identify genes potentially relevant in atopic asthma, we analyzed markers in chromosome 12q15-q24.1 for linkage to asthma and total serum IgE concentration. Sib-pair analyses of 10 markers in 345 full- and 219 half-sib pairs from 29 multiplex Afro-Caribbean families provided evidence for linkage to this region for both asthma and total serum IgE. Certain alleles at these loci showed significant evidence of transmission disequilibrium with both asthma and high IgE. Using 6 of these markers and 11 additional markers, evidence for linkage of total IgE to 12q was also found in 12 Caucasian Amish kindreds (24 nuclear families) by both sib-pair and transmission disequilibrium analyses. These findings suggest that the 12q15-q24.1 region may contain a gene(s) controlling asthma and the associated "high total IgE" trait.
为了鉴定与特应性哮喘潜在相关的基因，我们分析了12号染色体q15 - q24.1区域的标记物与哮喘及总血清IgE浓度的连锁关系。对来自29个多重非裔加勒比家庭的345个全同胞对和219个半同胞对中的10个标记物进行同胞对分析，为该区域与哮喘及总血清IgE的连锁提供了证据。这些位点的某些等位基因显示出与哮喘和高IgE存在显著的传递不平衡证据。通过同胞对分析和传递不平衡分析，在12个高加索阿米什家族（24个核心家庭）中，利用其中6个标记物和另外11个标记物，也发现了总IgE与12q连锁的证据。这些发现表明，12q15 - q24.1区域可能包含一个控制哮喘及相关“高总IgE”性状的基因。
